Phenotypic and genetic analysis of a Chinese pedigree affected with Oral-facial-digital syndrome / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical phenotype and genetic basis for a Chinese pedigree affected with Oral-facial-digital syndrome type I (OFD1).@*METHODS@#A pedigree with OFD1 who presented at Hebei General Hospital on March 17, 2021 was selected as the subject. Clinical data of the child was collected. Trio-whole exome sequencing (trio-WES) was carried out for the proband and members of her pedigree, and candidate variant was verified by Sanger sequencing.@*RESULTS@#The proband has featured hypotelorism, broad nasal root, flat nasal tip, lobulated tongue, tongue neoplasia, camptodactyly of left fifth finger, syndactyly of right fourth and fifth fingers, and delayed intellectual and language development. Trio-WES revealed that the proband and her daughter, sister and mother have harbored a heterozygous c.224A>G (p.Asn75Ser) variant of the OFD1 gene. The same variant was not found among healthy members from her pedigree.@*CONCLUSION@#The c.224A>G (p.Asn75Ser) variant probably underlay the OFD1 in this pedigree. Above discovery has enriched the spectrum of OFD1 gene variants.

Correlation of thickened nuchal fold with fetal chromosomal abnormalities among 919 cases / 中华医学遗传学杂志

Objective@#To explore the correlation between fetal nuchal fold (NF) thickening and fetal chromosomal abnormality.@*Methods@#In total 919 pregnant women undergoing ultrasound examination were selected for interventional prenatal diagnosis in order to detect fetal chromosomal abnormality.@*Results@#The detection rate of chromosomal abnormality has significantly increased with NF thickness, advanced maternal age, presence of other ultrasound abnormalities (P<0.05). Trisomy 21 was the most common abnormality, and there was a prepondance for male fetuses.@*Conclusion@#Increased NF thickness is strongly associated with the risk of fetal chromosomal abnormalities, advanced maternal age and presence of additional ultrasound abnormalities.

Correlation of thickened nuchal fold with fetal chromosomal abnormalities among 919 cases / 中华医学遗传学杂志

OBJECTIVE@#To explore the correlation between fetal nuchal fold (NF) thickening and fetal chromosomal abnormality.@*METHODS@#In total 919 pregnant women undergoing ultrasound examination were selected for interventional prenatal diagnosis in order to detect fetal chromosomal abnormality.@*RESULTS@#The detection rate of chromosomal abnormality has significantly increased with NF thickness, advanced maternal age, presence of other ultrasound abnormalities (P<0.05). Trisomy 21 was the most common abnormality, and there was a prepondance for male fetuses.@*CONCLUSION@#Increased NF thickness is strongly associated with the risk of fetal chromosomal abnormalities, advanced maternal age and presence of additional ultrasound abnormalities.

Effectiveness and comfort of Oculus Keratograph on tear film function test before corneal refractive surgery / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To explore correlation,consistency and comfort between traditional tear film examination methods and Oculus Keratograph.METHODS: A retrospective study.Totally 101 cases (101 eyes) were diagnosed myopia and then accepted LASEK (laser epithelial keratomileusis).Non-invasive tear film break-up time(NIBUT),lower tear meniscus height(LTMH) were measured with Oculus Keratograph,fluorescein tear film break-up time(fl-BUT) and Schimer Ⅰ test (SⅠt) were performed on all cases.The correlations analysis between NIBUT and fl-BUT,LTMH and SⅠt were performed by Spearman rank correlation,consistency check between NIBUT and fl-BUT by Bland-Altman analysis.Visual analogue scale(VAS) was applied on evaluating the comfort of two kinds of examination methods.RESULTS: LTMH and SⅠt showed positive correlation (rs=0.346,P=0.001).NIBUT and fl-BUT showed positive correlation (rs=0.393,P=0.001),95% consistency limits range-9.62 to 14.18 in Bland-Altman Figure.There was significant difference between VAS of NIBUT and VAS of fl-BUT(z=-2.324,P=0.020).There was significant difference between VAS of LTMH and VAS of SⅠt (z=-8.845,P=0.001).CONCLUSION: Oculus Keratograph can objectively measure NIBUT and LTMH,and was more comfortable than traditional tear film examination methods.It can effectively assess tear film function before corneal refractive surgery.

Inhibition of Paeoniflorin on TNF-α-induced TNF-α Receptor Type I /Nuclear Factor-κB Signal Transduction in Endothelial Cells / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To study the inhibitory effect of paeoniflorin (PAE) on TNF-α-induced TNF receptor type I (TNFR1)-mediated signaling pathway in mouse renal arterial endothelial cells (AECs) and to explore its underlying molecular mechanisms.</p><p><b>METHODS</b>Mouse AECs were cultured in vitro and then they were treated by different concentrations PAE or TNF-α for various time periods. Expression levels of intercellular cell adhesion molecule-1 (ICAM-1) were detected in the normal group (cultured by serum-free culture media), the TNF-α group (cultured by 2-h serum-free culture media plus 6-h TNF-α 30 ng/mL), the low dose PAE group (cultured by 2-h PAE 0.8 μmo/L plus 6-h TNF-α 30 ng/mL), the middle dose PAE group (cultured by 2-h PAE 8 μmol/L plus 6-h TNF-α 30 ng/mL), the high dose PAE group (cultured by 2-h PAE 80 μmol/L plus 6-h TNF-α 30 ng/mL) with Western blot analysis. Nuclear translocation of transcription factor NF-κB (NE-κB) was detected in the normal group (cultured by serum-free culture media), the TNF-α group (cultured by 2-h serum-free culture media plus 45-mm TNF-α 30 ng/mL), and the high dose PAE group (cultured by 2-h PAE 80 μmol/L plus 45-min TNF-α 30 ng/mL) by immunofluorescent staining. Expression levels of the phosphorylation of extracellular signal-regulated (protein) kinase (ph-ERK) and p38 (ph- p38) were detected in the normal group (cultured by serum-free culture media) and the high dose PAE group (2-h PAE 80 μmol/L culture) by Western blot. NF-κB inhibitor-α (IκBα) protein expressions were detected in the normal group (cultured by serum-free culture media), the TNF-α group (cultured by 2-h serum-free culture media plus 30-min TNF-α 30 ng/mL), the high dose PAE group (cultured by 2-h PAE 80 μmol/L plus 30-min TNF-α 30 ng/mL), the p38 inhibitor group (SB group, pretreatment with SB238025 25 μmol/L for 30 min, then treated by PAE 80 μmol/L for 2 h, and finally treated by TNF-α 30 ng/mL for 30 min), the ERK inhibitor group (PD group, treated by PD98059 50 μmol/L for 30 min, then treated by PAE 80 μmol/L for 2 h, and finally treated by TNF-α 30 ng/mL for 30 min) by Western blot.</p><p><b>RESULTS</b>Compared with the normal group, ICAM-1 protein expression levels obviously increased (P < 0.01). Compared with the TNFα group, ICAM-1 protein expression levels were obviously inhibited in the high dose PAE group (P < 0.05). Protein expression levels of ph-p38 and ph-ERK were obviously higher in the hIgh dose PAE group (P < 0.05). Compared with the normal group, IκBα protein expression levels obviously decreased in the TNF-α group (P < 0.01). Compared with the TNFα group, TNF-α-induced IκBα degradation could be significantly inhibited in the high dose PAE group (P < 0.01); the inhibition of PAE on IκBα degradation could be significantly inhibited in the SB group (P < 0.05). NF-κB/p65 signal was mainly located in cytoplasm in the normal group. NF-κB/p65 was translocated from cytoplasm to nucleus after stimulated by 45 min TNF-α in the TNF-α group, while it could be significantly inhibited in the high dose PAE group.</p><p><b>CONCLUSIONS</b>PAE inhibited TNF-α-induced expression of lCAM-1. Its action might be associated with inhibiting TNFR1/NF-κB signaling pathway. p38 participated and mediated these actions.</p>

Construction of Nude Mouse Model of Triple Negative Breast Cancer and Value of Thermal Tomography / 中国医学科学院学报

<p><b>OBJECTIVE</b>To explore the early detection of breast cancer by ultrasonic imaging and thermal tomography of luciferase or green fluorescent protein (GFP)-labeled MDA-MB-231 breast cancer cell line-xenografts in nude mice.</p><p><b>METHODS</b>Fluorescence-tagged lentiviral vectors were transfected into the triple-negative breast cancer cell line MDA-MB-231. These cells were implanted either subcutaneously under the right breast pad or intravenously into the tail vein of nude BALB/C mice. Thermal tomography and ultrasound imaging were used to detect tumor formation and to monitor tumor growth and metastasis in vivo.</p><p><b>RESULTS</b>Triple negative breast cancer cell line-xenografts were used to successfully construct an orthotopic nude mice model of breast cancer metastasis in the peritoneum. Thermal tomography and ultrasound imaging were used together to detect small tumors. Thermal tomography imaging detected small tumors earlier than ultrasound imaging.</p><p><b>CONCLUSIONS</b>Thermal tomography can be used to monitor changes in tumor growth and detect abnormal tissue. Therefore, it can serve as a convenient,rapid,sensitive, and reliable technique for early screening of human breast cancer.</p>

Percutaneous Removal of Benign Breast Lesions with an Ultrasound-guided Vacuum-assisted System: Influence Factors in the Hematoma Formation / 中国医学科学杂志(英文版)

Objective To explore the influence factors in hematoma formation after removing benign breast lesions with an ultrasound-guided vacuum-assisted system.Methods A total of 232 females with 312 benign breast masses received excisional biopsy with ultrasound- guided vacuum-assisted system. The pathology of patients, Results of hematoma development and outcome, influence factors for hematoma occurrence (nodule size, nodule location, number of nodule, breast shape, menstrual period, efficacy time of bandage, and application of hemostatic agents during the procedure) were recorded.Results Pathologic examination revealed fibroadenomas in 138 lesions, fibroadenosis in 127 lesions, intraductal papillomas in 39 lesions, inflammatory change in 4 lesions, retention cyst of the breast in 3 lesions, and benign phyllodes tumor in 1 lesion. Thirty hematomas were observed in patients (9.6%). Finally, 97.0% hematomas were absorbed completely within 6 months follow-up. The incidence rates of hematoma were increased by 24.7%, 10.0%, 63.2%, 13.9% in the nodule diameter larger or equal to 25 mm group, removal of larger or equal to two nodules once time from one patient group, menstrual period group, and larger and loose breast group, respectively (all P<0.05). However, the incidences were decreased by 60.6% in the bandage performed for 12-24 hours or beyond 24 hours group (P<0.05). The multiple logistic regression models revealed that nodule size (χ=15.227, P<0.001), number of nodule (χ=7.767, P=0.005), menstrual period (χ=24.530, P<0.001), and breast shape (χ=9.559, P=0.002) were independent risk factors associated with hematoma occurrence, but efficacy time of bandage was a protective factor associated with hematoma occurrence.Conclusion The occurrence of hematoma after the minimally invasive operation was associated with nodule size, number of nodule, menstrual period, breast shape, and efficacy time of bandage.

Detection and adequacy assessment of erythrocyte glutathione transferase on the cycle toxin level of hemodialysis patient

To explore detection and adequacy evaluation of erythrocyte glutathione S transferase [GST] in hemodialysis patients on circular toxin levels, this paper divided 84cases of long-term hemodialysis end-stage patients into 33 cases of adequate hemodialysis group [spKtN>1.3] and 51 cases of inadequate hemodialysis group [spKtN<1.3] according to urea index value of unit chamber model [spKt/V]. Take the other 50 cases of healthy physical examination people for control group, compare and analyze related clinical and biochemical indexes differences of three groups. The level of hemodialysis group GST, creatinine, high sensitivity C-reactive protein [hs-CRP], transferrin saturation [TSAT], parathyroid hormone [PTH], interleukin-2,6,8 [IL-2,6,8] and tumor necrosis factor-a [TNF-a] was significantly higher than the control group [P<0.05], and GST, IL-2, 6, 8, TNF-a level of inadequate hemodialysis group was significantly higher than adequate hemodialysis group [P<0.05]. Pearson's relevant analysis showed that GST and spKt/V, IL-2, IL-6, IL-8, TNF-a have positive correlation [P<0.05] and had no correlation with creatinine, hs-CRP, TSAT, PHT [P>0.05]. There was 23patients spKtN>1.3 after adjusting the dialysis solution for 5lcases of inadequate hemodialysis patients, GST level after the adjustment was significantly lower than before the adjustment, but still higher than adequate dialysis eroup. It concludes that the maintenance of hemodialysis patients' level has certain relevance on spKt/V and associated inflammatory factors. Through the determination, GST can effectively response the adequate hemodialysis, which has a guiding significance on adjusting blood dialysis solution in clinic

Effects of Wenxiao Decoction on the expression of interleukin-6, intercellular adhesion molecular-1 and monocyte chemoattractant protein-1 in experimental atherosclerotic rabbits / 中国结合医学杂志

<p><b>OBJECTIVE</b>To observe the effects of different doses of Wenxiao Decoction on the expression of interleukin-6 (IL-6), intercellular adhesion molecule-1 (ICAM-1), and monocyte chemoattractant protein-1 (MCP-1) in experimental atherosclerotic rabbits and to explore the mechanism by which it alleviates atherosclerosis.</p><p><b>METHODS</b>Sixty New Zealand rabbits were randomly divided into six groups: a blank group, a model group, a Simvastatin group, and high-, medium-, and low-dosage Wenxiao Decoction groups. Except for those in the blank group, all rabbits were fed with a high-cholesterol diet. Carotid atherosclerosis was established by balloon-induced carotid artery endothelium injury in conjunction with the high-cholesterol diet. After 8 weeks, all animals were euthanized to evaluate levels of IL-6 and ICAM-1 expressions (by enzyme linked immunosorbent assay) and of MCP-1 (by immunohistochemistry staining).</p><p><b>RESULTS</b>The expressions of IL-6, ICAM-1, and MCP-1 were significantly increased in all groups except the blank group (P<0.05). However, the rabbits in the Wenxiao Decoction groups and the Simvastatin group showed significantly lower levels of IL-6, ICAM-1, and MCP-1 expression than those in the model group (P<0.05). The expressions of IL-6, ICAM-1, and MCP-1 in the highdosage Wenxiao Decoction group and the Simvastatin group were lower than those in the low-dosage Wenxiao Decoction group (P<0.05). The expression of MCP-1 in medium-dosage Wenxiao Decoction group was lower than that in the low-dosage group (P<0.05).</p><p><b>CONCLUSIONS</b>High, medium, and low doses of Wenxiao Decoction can inhibit the expressions of IL-6, ICAM-1, and MCP-1, which may prevent and stabilize atherosclerotic plaques. There may be a direct relationship between dosage and therapeutic efficacy of Wenxiao Decoction.</p>

Application of Mammotome minimally invasive biopsy in diagnosis of non-palpable small lesions in breast / 上海第二医科大学学报

Objective To evaluate the application of Mammotome minimally invasive biopsy(MMIBS) in the diagnosis of non-palpable small lesions in breast. Methods A total of 42 patients with non-palpable small breast lesions and abnormal imaging findings were performed MMIBS.After MMIBS,21 patients received open operations,and the pathological diagnosis was compared and analysed. Results All these 42 patients were successfully performed MMIBS,with no severe complications,and the pathological diagnosis of MMIBS were breast cancer(8 patients) and benign pathological changes(34 patients).Among the 21 patients with open operations,the post-operative pathological findings of 20 patients were same as the results of MMIBS,with the sensitivity of 88.9% and specificity of 100%.The other 21 patients without operations were followed up for 6 to 12 months,and no abnormal mammographic and ultrasonographic findings were observed.Conclusion MMIBS boasts the characteristics of minimal invasion,safety,high sensitivity and high specificity,which can serve as the first choice in the diagnosis of non-palpable small lesions with abnormal imaging findings.

Establishment of artificial-tooth three-dimensional coordinates based on dental anatomic concepts / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To establish a three-dimensional (3-D) descartes coordinates of artificial teeth based on concepts of dental anatomy and to obtain their geometric parameters.</p><p><b>METHODS</b>Using the 3-D reverse engineering software, artificial-tooth coordinates were defined based on their anatomic concepts which included long axis, mesiodistal and buccolingual directions, and occlusal plane. Some geometric parameters, such as mesiodistal and buccolingual dimensions, height and obliquity of dental cusp, were measured.</p><p><b>RESULTS</b>The 3-D coordinates of 28 artificial teeth were established and geometric parameters in coordinates were obtained.</p><p><b>CONCLUSIONS</b>The definition of artificial-tooth coordinates can be made using mathematic language based on dental anatomic concepts, which is the basal work of complete denture computer-aided design (CAD).</p>